Variant report

Variant	rs58931064
Chromosome Location	chr11:85343737-85343738
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85341808-85347138	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85338792..85341114-chr11:85342281..85345655,5	MCF-7	breast:
2	chr11:85338448..85341428-chr11:85341635..85345744,6	MCF-7	breast:

Variant related genes	Relation type
DLG2	TF binding region
ENSG00000150672	Chromatin interaction
ENSG00000171204	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10501595	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234359	0.80[ASN][1000 genomes]
rs11603984	0.80[ASN][1000 genomes]
rs11604028	0.87[ASN][1000 genomes]
rs11820071	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1192	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1214001	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12417341	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12419172	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17148254	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17148293	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17148306	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17208492	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17208519	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17810659	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1892872	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1991923	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2162055	0.93[ASN][1000 genomes]
rs2290823	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2467059	0.86[ASN][1000 genomes]
rs290177	0.86[ASN][1000 genomes]
rs290178	0.89[ASN][1000 genomes]
rs290182	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290186	0.92[ASN][1000 genomes]
rs35097455	0.82[ASN][1000 genomes]
rs35844123	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280023	0.86[ASN][1000 genomes]
rs4943925	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944527	0.97[ASN][1000 genomes]
rs4944529	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4944531	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944532	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs497698	0.92[ASN][1000 genomes]
rs55739259	0.86[ASN][1000 genomes]
rs56073783	0.88[ASN][1000 genomes]
rs56238215	0.82[ASN][1000 genomes]
rs56273824	0.80[ASN][1000 genomes]
rs56321405	0.80[ASN][1000 genomes]
rs56579	0.86[ASN][1000 genomes]
rs56737296	0.86[ASN][1000 genomes]
rs57223077	0.88[ASN][1000 genomes]
rs58152312	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60484561	0.80[ASN][1000 genomes]
rs60838923	0.91[ASN][1000 genomes]
rs61133973	0.83[ASN][1000 genomes]
rs61286868	0.87[ASN][1000 genomes]
rs6592252	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6592253	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7108132	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7108137	0.88[ASN][1000 genomes]
rs7115250	0.97[ASN][1000 genomes]
rs7119617	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73499156	0.80[ASN][1000 genomes]
rs73499163	0.80[ASN][1000 genomes]
rs7939217	0.92[ASN][1000 genomes]
rs7943586	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881121	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs947861	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs947862	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs947863	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85340200-85348400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:85340200-85351800	Weak transcription	Gastric	stomach
3	chr11:85340200-85352400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:85340400-85345400	Weak transcription	Lung	lung
5	chr11:85340400-85349400	Weak transcription	Pancreas	Pancrea
6	chr11:85340400-85351000	Weak transcription	Esophagus	oesophagus
7	chr11:85340600-85345000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:85340600-85345200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:85340600-85345200	Weak transcription	Brain Substantia Nigra	brain
10	chr11:85340600-85345400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:85340600-85345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:85340600-85345400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:85340600-85345400	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:85340600-85345400	Weak transcription	Left Ventricle	heart
15	chr11:85340600-85345600	Weak transcription	Ovary	ovary
16	chr11:85340600-85345800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:85340600-85347600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:85340600-85350000	Weak transcription	Stomach Mucosa	stomach
19	chr11:85340600-85352800	Weak transcription	Fetal Brain Male	brain
20	chr11:85340600-85358200	Weak transcription	Aorta	Aorta
21	chr11:85340800-85344800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:85340800-85345000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:85340800-85345200	Weak transcription	Fetal Lung	lung
24	chr11:85340800-85345400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:85340800-85350000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:85340800-85358200	Weak transcription	Fetal Stomach	stomach
27	chr11:85340800-85358200	Weak transcription	Right Ventricle	heart
28	chr11:85340800-85358200	Weak transcription	HSMMtube	muscle
29	chr11:85341000-85345000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:85341000-85345000	Weak transcription	Primary B cells from cord blood	blood
31	chr11:85341000-85351600	Weak transcription	Thymus	Thymus
32	chr11:85341200-85344800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:85341200-85344800	Weak transcription	NHDF-Ad	bronchial
34	chr11:85341200-85345000	Weak transcription	Fetal Intestine Large	intestine
35	chr11:85341200-85345200	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:85341200-85345200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:85341200-85345400	Weak transcription	Fetal Kidney	kidney
38	chr11:85341200-85345400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:85341200-85345400	Weak transcription	NH-A	brain
40	chr11:85341200-85345600	Weak transcription	Brain Germinal Matrix	brain
41	chr11:85341200-85348000	Weak transcription	Fetal Brain Female	brain
42	chr11:85341200-85354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:85341200-85358000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:85341200-85358000	Weak transcription	NHLF	lung
45	chr11:85341200-85358200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:85341200-85358200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:85341200-85358200	Weak transcription	Spleen	Spleen
48	chr11:85341200-85358400	Weak transcription	Small Intestine	intestine
49	chr11:85341400-85344000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:85341400-85344600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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